METAP1: Methionyl Aminopeptidase 1
A key regulator of N-terminal methionine excision and protein stability
Gene Information Card
| Symbol | METAP1 |
|---|---|
| Full Name | methionyl aminopeptidase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 23173 ncbi.nlm.nih.gov/gene/23173 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | P53582 |
| OMIM ID | 602468 |
| HGNC ID | 15753 |
| Aliases | MAP1, MetAP1, MNPEP |
Description
METAP1 encodes methionyl aminopeptidase 1, a cytosolic enzyme that catalyzes the removal of the N-terminal methionine from nascent proteins. This cotranslational processing is essential for protein maturation, stability, and function. METAP1 is involved in cell cycle regulation, angiogenesis, and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of METAP1 expression alters protein processing and promotes cell proliferation | PMID: 25691811 |
| Intellectual disability | Homozygous loss-of-function mutations impair neuronal protein maturation | PMID: 31036916 |
| Developmental delay | METAP1 deficiency disrupts global N-terminal methionine excision | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Heart | 7.2 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 8.9 | Medium expression |
| A549 | 10.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.632C>T (p.Thr211Ile) | Missense | Rare | Reduced enzymatic activity |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense mutations (e.g., p.Thr211Ile) reduce catalytic activity, leading to developmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • aminopeptidase activity (GO:0004177) | • proteolysis (GO:0006508) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • cellular protein metabolic process (GO:0009987) |
Pathways
• N-terminal methionine excision (Reactome: R-HSA-1234158)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
METAP1 is a 386-amino-acid zinc-dependent metalloprotease that forms a homodimer. It removes N-terminal methionine from nascent polypeptides when the second residue is small (e.g., alanine, serine). The enzyme is essential for cell viability and is a target for anticancer drug development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METAP1D Knockout HEK293 Cell Line | EDJ-KQ11752 | Human | 254042 | Details Get a Quote |
| METAP1D Knockout HCT 116 Cell Line | EDJ-KQ40138 | Human | 254042 | Details Get a Quote |
| METAP1D Knockout HeLa Cell Line | EDJ-KQ40139 | Human | 254042 | Details Get a Quote |
| METAP1D Knockout A-549 Cell Line | EDJ-KQ38873 | Human | 254042 | Details Get a Quote |
